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The reason I posted this particular one is that the author is well aware of the limitations. The reason it's interesting is that 23andme and their ilk do make
by bbgm 16y ago
The reason I posted this particular one is that the author is well aware of the limitations. The reason it's interesting is that 23andme and their ilk do make a certain level of information more accessible, which is not a bad thing, and hopefully makes people more curious.
On GWAS, while the utility of GWAS alone is questionable, GWAS is and will be a key part of many discovery programs for a while. It's tractable, and combined with expression does provide some fascinating insights into disease.
- carbocation 16y agoYes, thanks for being selective! I appreciated the author's relatively minor discussion of the disease data and more expansive discussion of the rest. For completeness: when I say 'GWAS' in this context I am referring to 'common SNPs' (MAF>=5%, or perhaps down to 1%), not to genome-wide association studies based on the SNPs. I used to argue with my labmates about the proper use of the term 'GWAS': I felt that it should refer to the studies only, and 'common SNPs' should be called 'common SNPs'; my labmates preferred to call common SNPs 'GWAS data' and I've finally been converted. Anyways, I do think that expression+GWAS is useful, but it's not going to get us to a place that's better than history for most diseases.[1] Exome and then genome sequencing will be needed for that. [1] = On the other hand, Purcell has an interesting paper out that discards the genome-wide significance threshold, with interesting results.
- bbgm 16y agoNo disagreement on any points :)